Canonical Allele Identifier: CA412982274

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1602124034
• gnomAD v4: X-38675804-T-G
• MyVariant Identifiers: chrX:g.38535058T>G (hg19) ; chrX:g.38675804T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675804T>G , CM000685.2:g.38675804T>G	GRCh38
NC_000023.10:g.38535058T>G , CM000685.1:g.38535058T>G	GRCh37
NC_000023.9:g.38420002T>G	NCBI36
NG_009160.1:g.119328T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.541T>G MANE Select	ENSP00000367743.2:p.Cys181Gly
ENST00000286824.6:c.592T>G	ENSP00000286824.6:p.Cys198Gly
ENST00000378482.6:c.541T>G	ENSP00000367743.2:p.Cys181Gly
ENST00000419600.3:n.485T>G
ENST00000465127.1:c.631T>G	ENSP00000417050.1:p.Cys211Gly
ENST00000471410.5:c.*567T>G	ENSP00000419290.1:n.*567T>G
ENST00000475216.5:c.*534T>G	ENSP00000418586.1:n.*534T>G
ENST00000488893.5:n.724T>G
NM_004615.3:c.541T>G	NP_004606.2:p.Cys181Gly
NM_004615.4:c.541T>G MANE Select	NP_004606.2:p.Cys181Gly